OMIM Find_IDs Find_Terms Annotation
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created at 2024-09-23 05:55:30 UTC
updated at 2024-09-23 18:21:54 UTC
The OMIM entries, compiled in the following way.
1. The original entries were downloaded from BioPortal, on Sep. 23, 2024.
2. Only the original OMIM entries were extracted, which excluded the STY and MTHU entries.
Namespace for Semantic Web: http://purl.bioontology.org/ontology/OMIM/
Namespace for the OMIM web pages: https://www.omim.org/entry/
116,330 entries
Label
Id
ARH 603813
FHCL4 603813
ARH1, FORMERLY 603813
ARH2, FORMERLY 603813
FHCB1, FORMERLY 603813
FHCB2, FORMERLY 603813
HYPERCHOLESTEROLEMIA, FAMILIAL, 4 603813
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 603813
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY 603813
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY 603813